KEGG DISEASE: Autoinflammation and autoimmunity, systemic, with immune dysregulation

KEGG

DISEASE: Autoinflammation and autoimmunity, systemic, with immune dysregulation

Entry

H03012                      Disease

Name

Autoinflammation and autoimmunity, systemic, with immune dysregulation

Description

Autoinflammation and autoimmunity, systemic, with immune dysregulation (AIAISD) is a rare syndrome of autoimmune disease characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. It has been reported that mutations in COPA cause this syndrome. COPA encodes the COPA subunit of the coat protein complex I (COPI). COPI and COPII are key components of the vesicular trafficking machinery between the endoplasmic reticulum (ER) and the Golgi. Recently, AIAISD caused by mutation in OAS2 has also been reported.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A43  Overlap or undifferentiated nonorgan specific systemic autoimmune disease
    H03012  Autoinflammation and autoimmunity, systemic, with immune dysregulation
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06521  NLR signaling
   H03012  Autoinflammation and autoimmunity, systemic, with immune dysregulation

Network

nt06521 NLR signaling

Gene

(AIAISD1) COPA [HSA:1314] [KO:K05236]
(AIAISD2) OAS2 [HSA:4939] [KO:K14216]

Other DBs

ICD-11:

OMIM:

Reference

PMID:25894502 (AIAISD1)

Authors

Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK

Title

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Journal

Nat Genet 47:654-60 (2015)
DOI:10.1038/ng.3279

Reference

PMID:40412389 (AIAISD2)

Authors

Merold V, Bekere I, Kretschmer S, Schnell AF, Kmiec D, Sivarajan R, Lammens K, Liu R, Mergner J, Teppert J, Hirschenberger M, Henrici A, Hammes S, Buder K, Weitz M, Hackmann K, Koenig LM, Pichlmair A, Schwierz N, Sparrer KMJ, Lee-Kirsch MA, de Oliveira Mann CC

Title

Structural basis for OAS2 regulation and its antiviral function.

Journal

Mol Cell 85:2176-2193.e13 (2025)
DOI:10.1016/j.molcel.2025.05.001

LinkDB

» Japanese version

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